Inefficient dystrophin expression after cord blood transplantation in duchenne muscular dystrophy

Peter B. Kang; Hart G.W. Lidov; Alexander J. White; Matthew Mitchell; Anuradha Balasubramanian; Elicia Estrella; Richard R. Bennett; Basil T. Darras; Frederic D. Shapiro; Barbara J. Bambach; Joanne Kurtzberg; Emanuela Gussoni; Louis M. Kunkel

doi:10.1002/mus.21702

Inefficient dystrophin expression after cord blood transplantation in duchenne muscular dystrophy

Peter B. Kang, Hart G.W. Lidov, Alexander J. White, Matthew Mitchell, Anuradha Balasubramanian, Elicia Estrella, Richard R. Bennett, Basil T. Darras, Frederic D. Shapiro, Barbara J. Bambach, Joanne Kurtzberg, Emanuela Gussoni, Louis M. Kunkel

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16 Scopus citations

Abstract

We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The CGD was cured after the second transplantation, but 2.5 years later he was diagnosed with Duchenne muscular dystrophy (DMD). Examinations of his DNA, muscle tissue, and myoblast cultures derived from muscle tissue were performed to determine whether any donor dystrophin was being expressed. The boy was found to have a large-scale deletion on the X chromosome that spanned the loci for CYBB and DMD. The absence of dystrophin led to muscle histology characteristic of DMD. Analysis of myofibers demonstrated no definite donor cell engraftment. This case suggests that umbilical cord-derived hematopoietic stem cell transplantation will not be efficacious in the therapy of DMD without additional interventions that induce engraftment of donor cells in skeletal muscle.

Original language	English (US)
Pages (from-to)	746-750
Number of pages	5
Journal	Muscle and Nerve
Volume	41
Issue number	6
DOIs	https://doi.org/10.1002/mus.21702
State	Published - Jun 2010
Externally published	Yes

Keywords

Chronic granulomatous disease
Duchenne muscular dystrophy
Dystrophin
Stem cell therapy
Umbilical cord blood transplantation

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10.1002/mus.21702

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Kang, P. B., Lidov, H. G. W., White, A. J., Mitchell, M., Balasubramanian, A., Estrella, E., Bennett, R. R., Darras, B. T., Shapiro, F. D., Bambach, B. J., Kurtzberg, J., Gussoni, E., & Kunkel, L. M. (2010). Inefficient dystrophin expression after cord blood transplantation in duchenne muscular dystrophy. Muscle and Nerve, 41(6), 746-750. https://doi.org/10.1002/mus.21702

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title = "Inefficient dystrophin expression after cord blood transplantation in duchenne muscular dystrophy",

abstract = "We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The CGD was cured after the second transplantation, but 2.5 years later he was diagnosed with Duchenne muscular dystrophy (DMD). Examinations of his DNA, muscle tissue, and myoblast cultures derived from muscle tissue were performed to determine whether any donor dystrophin was being expressed. The boy was found to have a large-scale deletion on the X chromosome that spanned the loci for CYBB and DMD. The absence of dystrophin led to muscle histology characteristic of DMD. Analysis of myofibers demonstrated no definite donor cell engraftment. This case suggests that umbilical cord-derived hematopoietic stem cell transplantation will not be efficacious in the therapy of DMD without additional interventions that induce engraftment of donor cells in skeletal muscle.",

keywords = "Chronic granulomatous disease, Duchenne muscular dystrophy, Dystrophin, Stem cell therapy, Umbilical cord blood transplantation",

author = "Kang, {Peter B.} and Lidov, {Hart G.W.} and White, {Alexander J.} and Matthew Mitchell and Anuradha Balasubramanian and Elicia Estrella and Bennett, {Richard R.} and Darras, {Basil T.} and Shapiro, {Frederic D.} and Bambach, {Barbara J.} and Joanne Kurtzberg and Emanuela Gussoni and Kunkel, {Louis M.}",

year = "2010",

month = jun,

doi = "10.1002/mus.21702",

language = "English (US)",

volume = "41",

pages = "746--750",

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T1 - Inefficient dystrophin expression after cord blood transplantation in duchenne muscular dystrophy

AU - Kang, Peter B.

AU - Lidov, Hart G.W.

AU - White, Alexander J.

AU - Mitchell, Matthew

AU - Balasubramanian, Anuradha

AU - Estrella, Elicia

AU - Bennett, Richard R.

AU - Darras, Basil T.

AU - Shapiro, Frederic D.

AU - Bambach, Barbara J.

AU - Kurtzberg, Joanne

AU - Gussoni, Emanuela

AU - Kunkel, Louis M.

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Y1 - 2010/6

N2 - We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The CGD was cured after the second transplantation, but 2.5 years later he was diagnosed with Duchenne muscular dystrophy (DMD). Examinations of his DNA, muscle tissue, and myoblast cultures derived from muscle tissue were performed to determine whether any donor dystrophin was being expressed. The boy was found to have a large-scale deletion on the X chromosome that spanned the loci for CYBB and DMD. The absence of dystrophin led to muscle histology characteristic of DMD. Analysis of myofibers demonstrated no definite donor cell engraftment. This case suggests that umbilical cord-derived hematopoietic stem cell transplantation will not be efficacious in the therapy of DMD without additional interventions that induce engraftment of donor cells in skeletal muscle.

AB - We report a boy who received two allogeneic stem cell transplantations from umbilical cord donors to treat chronic granulomatous disease (CGD). The CGD was cured after the second transplantation, but 2.5 years later he was diagnosed with Duchenne muscular dystrophy (DMD). Examinations of his DNA, muscle tissue, and myoblast cultures derived from muscle tissue were performed to determine whether any donor dystrophin was being expressed. The boy was found to have a large-scale deletion on the X chromosome that spanned the loci for CYBB and DMD. The absence of dystrophin led to muscle histology characteristic of DMD. Analysis of myofibers demonstrated no definite donor cell engraftment. This case suggests that umbilical cord-derived hematopoietic stem cell transplantation will not be efficacious in the therapy of DMD without additional interventions that induce engraftment of donor cells in skeletal muscle.

KW - Chronic granulomatous disease

KW - Duchenne muscular dystrophy

KW - Dystrophin

KW - Stem cell therapy

KW - Umbilical cord blood transplantation

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Inefficient dystrophin expression after cord blood transplantation in duchenne muscular dystrophy

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